Autosomal-dominant locus for Restless Legs Syndrome in French-Canadians on chromosome 16p12.1.
We describe an autosomal-dominant locus for Restless Legs Syndrome (RLS) in a French-Canadian (FC) pedigree. Genome-wide microsatellite scan and linkage analysis were used in this study. The locus maps to chromosome 16p12.1 and spans 1.18 Mega bases. The maximum multipoint LOD scores are of 3.5 over the total of 10 markers. Evidence for the same locus was also found in a smaller FC pedigree sime095. The analysis of the sequence of 8 annotated genes within the region did not reveal any pathogenic mutations. Copy number variation and karyotype analyses did not reveal any chromosomal abnormality in the region. Further analyses of the region are necessary to find the genetic cause of RLS in this family.
Levchenko
Anastasia
A
Center of Excellence in Neuromics, CHUM Research Center-Notre Dame Hospital, Quebec, Canada.
Montplaisir
Jacques-Yves
JY
Asselin
Géraldine
G
Provost
Sylvie
S
Girard
Simon L
SL
Xiong
Lan
L
Lemyre
Emmanuelle
E
St-Onge
Judith
J
Thibodeau
Pascale
P
Desautels
Alex
A
Turecki
Gustavo
G
Gaspar
Claudia
C
Dubé
Marie-Pierre
MP
Rouleau
Guy A
GA
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D005602:France / Q000208:ethnology; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010292:Paresthesia / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011248:Pregnancy Complications / Q000235:genetics; D011792:Quebec / Q000453:epidemiology; D012148:Restless Legs Syndrome / Q000208:ethnology / Q000235:genetics*; D055815:Young Adult